Citation:Chen X,Zeng WX,Duan BY,Lin YY,Liu J,Zhang ZD.Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases.Int J Ophthalmol 2022;15(7):1062-1070,doi:10.18240/ijo.2022.07.04
Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases
Received:August 04, 2021  Revised:January 25, 2022
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DOI:10.18240/ijo.2022.07.04
Key Words:ectodermal dysplasia  ectropion  full-thickness skin graft  whole-exome sequencing
Fund Project:Supported by Zhejiang Provincial Natural Science Foundation of China (No.LY19H120005).
                 
AuthorInstitution
Xi Chen Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou , Zhejiang Province, China
Wei-Xuan Zeng Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou , Zhejiang Province, China
Bao-Ying Duan Aier Eye Hospital, Kunming , Yunnan Province, China
Yan-Yan Lin Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou , Zhejiang Province, China
Jia Liu Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou , Zhejiang Province, China
Zong-Duan Zhang Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou , Zhejiang Province, China
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Abstract:
      AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases.

    METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members.

    RESULTS: The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations.

    CONCLUSION: Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.

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